Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000417106 | SCV000494652 | pathogenic | Rubinstein-Taybi syndrome due to CREBBP mutations | 2015-11-04 | criteria provided, single submitter | clinical testing | Patient with Rubinstein-Taybi syndrome, and with a complete heterozygous deletion of the CREBBP gene. |